CSF2RB wt Allele

Preferred Label : CSF2RB wt Allele;

NCIt synonyms : IL5RB; CDw131; Colony Stimulating Factor 2 Receptor, Beta, Low-Affinity (Granulocyte-Macrophage) wt Allele; IL3RB; Colony Stimulating Factor 2 Receptor, Beta Gene; Interleukin 3 Receptor/Granulocyte-Macrophage Colony Stimulating Factor 3 Receptor, Beta (High Affinity) Gene; CD131; CITF22-45C1.4; SMDP5; Granulocyte-Macrophage Colony-Stimulating Factor Receptor, Beta Gene;

NCIt definition : Human CSF2RB wild-type allele is located in the vicinity of 22q13.1 and is approximately 17 kb in length. This allele, which encodes cytokine receptor common beta chain protein, is involved in signal transduction. Mutations in the gene that produce variant alleles are associated with the pathogenesis of that myeloproliferative disorder and protein alveolar proteinosis.;

GenBank Accession Number : NM_000395;

Details

Origin ID

C51349;

UMLS CUI

C1707151;

OMIM relation
- Granulocyte-macrophage colony-stimulating factor receptor, beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 22: 35642722-35659318 [NCIt concept]
gene_in_chromosomal_location
- 22q13.1 [NCIt concept]
gene_is_element_in_pathway
- Apoptosis Pathway [NCIt concept]
- BAD Regulation Pathway [NCIt concept]
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- IL3 Signaling Pathway [NCIt concept]
- Jak-STAT Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Colony Stimulating Factor Signaling Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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